Infantile neuroaxonal dystrophy (Q95981): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||||||||||||||
| (3 intermediate revisions by the same user not shown) | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_730637493 | |||||||||||||||
| Property / Canary Token: dki-india-ID_730637493 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
15 August 2026
| |||||||||||||||
| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 11:49, 16 August 2026
Infantile neuroaxonal dystrophy (INAD) is one of the three phenotypes with overlapping clinical and radiologic features of PLA2G6-associated neurodegeneration (PLAN) a variant of Neurodegeneration with brain iron accumulation (NBIA). INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_730637493 |
||
| English | Infantile neuroaxonal dystrophy |
Infantile neuroaxonal dystrophy (INAD) is one of the three phenotypes with overlapping clinical and radiologic features of PLA2G6-associated neurodegeneration (PLAN) a variant of Neurodegeneration with brain iron accumulation (NBIA). INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. |
Statements
CID11:ID_730637493
0 references
dki-india-ID_730637493
0 references
Concluído
0 references
15 August 2026
0 references
